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Germline mutation

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

Simon L. Girard, Cynthia V. Bourassa, [ ... ], Guy A. Rouleau

Accumulation of Deleterious Passenger Mutations Is Associated with the Progression of Hepatocellular Carcinoma

Magdalena A. Budzinska, Thomas Tu, [ ... ], Nicholas A. Shackel

Interaction between Hormonal Receptor Status, Age and Survival in Patients with BRCA1/2 Germline Mutations: A Systematic Review and Meta-Regression

Arnoud J. Templeton, Laura Diez Gonzalez, [ ... ], Alberto Ocana

Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients

Sofia Maia, Marta Cardoso, [ ... ], Manuel R. Teixeira

Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers

Pawel Domagala, Anna Jakubowska, [ ... ], Jan Lubinski

Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome

Abram Bunya Kamiza, Ling-Ling Hsieh, [ ... ], Chih-Ching Yeh

Identification of a Comprehensive Spectrum of Genetic Factors for Hereditary Breast Cancer in a Chinese Population by Next-Generation Sequencing

Xiaochen Yang, Jiong Wu, [ ... ], Zhen Hu

Mismatch Repair-Deficient Crypt Foci in Lynch Syndrome – Molecular Alterations and Association with Clinical Parameters

Laura Staffa, Fabian Echterdiek, [ ... ], Matthias Kloor

Mutation Analysis of Inhibitory Guanine Nucleotide Binding Protein Alpha (GNAI) Loci in Young and Familial Pituitary Adenomas

Hande Demir, Iikki Donner, [ ... ], Auli Karhu

Systematic Study on Genetic and Epimutational Profile of a Cohort of Amsterdam Criteria-Defined Lynch Syndrome in Singapore

Yanqun Liu, Min Hoe Chew, [ ... ], Choong Leong Tang

Monoallelic Germline TSC1 Mutations Are Permissive for T Lymphocyte Development and Homeostasis in Tuberous Sclerosis Complex Individuals

Karolina Pilipow, Veronica Basso, Nicola Migone, Anna Mondino

Transcriptional Defect of an Inherited NKX2-5 Haplotype Comprising a SNP, a Nonsynonymous and a Synonymous Mutation, Associated with Human Congenital Heart Disease

Stella Marie Reamon-Buettner, Evelyn Sattlegger, [ ... ], Jürgen Borlak

Identification and Characterization of CDH1 Germline Variants in Sporadic Gastric Cancer Patients and in Individuals at Risk of Gastric Cancer

Marica Garziera, Vincenzo Canzonieri, [ ... ], Valli De Re

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